Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans.
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| Title: | Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans. |
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| Authors: | Cortés-González, Vianney1,2 (AUTHOR), Rodriguez-Morales, Miguel1,2 (AUTHOR), Ataliotis, Paris3 (AUTHOR), Mayer, Claudine4,5 (AUTHOR), Plaisancié, Julie6,7 (AUTHOR), Chassaing, Nicolas6,7 (AUTHOR), Lee, Hane8 (AUTHOR), Rozet, Jean-Michel9 (AUTHOR), Cavodeassi, Florencia3 (AUTHOR) fcavodea@sgul.ac.uk, Fares Taie, Lucas9 (AUTHOR) lucas.fares-taie@inserm.fr |
| Source: | Human Genetics. Dec2024, Vol. 143 Issue 12, p1509-1521. 13p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 180991545 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Cortés-González%2C+Vianney%22">Cortés-González, Vianney</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rodriguez-Morales%2C+Miguel%22">Rodriguez-Morales, Miguel</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ataliotis%2C+Paris%22">Ataliotis, Paris</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mayer%2C+Claudine%22">Mayer, Claudine</searchLink><relatesTo>4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Plaisancié%2C+Julie%22">Plaisancié, Julie</searchLink><relatesTo>6,7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chassaing%2C+Nicolas%22">Chassaing, Nicolas</searchLink><relatesTo>6,7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lee%2C+Hane%22">Lee, Hane</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rozet%2C+Jean-Michel%22">Rozet, Jean-Michel</searchLink><relatesTo>9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cavodeassi%2C+Florencia%22">Cavodeassi, Florencia</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> fcavodea@sgul.ac.uk</i><br /><searchLink fieldCode="AR" term="%22Fares+Taie%2C+Lucas%22">Fares Taie, Lucas</searchLink><relatesTo>9</relatesTo> (AUTHOR)<i> lucas.fares-taie@inserm.fr</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Human+Genetics%22">Human Genetics</searchLink>. Dec2024, Vol. 143 Issue 12, p1509-1521. 13p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=180991545 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-024-02712-y Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 13 StartPage: 1509 Titles: – TitleFull: Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cortés-González, Vianney – PersonEntity: Name: NameFull: Rodriguez-Morales, Miguel – PersonEntity: Name: NameFull: Ataliotis, Paris – PersonEntity: Name: NameFull: Mayer, Claudine – PersonEntity: Name: NameFull: Plaisancié, Julie – PersonEntity: Name: NameFull: Chassaing, Nicolas – PersonEntity: Name: NameFull: Lee, Hane – PersonEntity: Name: NameFull: Rozet, Jean-Michel – PersonEntity: Name: NameFull: Cavodeassi, Florencia – PersonEntity: Name: NameFull: Fares Taie, Lucas IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 03406717 Numbering: – Type: volume Value: 143 – Type: issue Value: 12 Titles: – TitleFull: Human Genetics Type: main |
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